Boerjeson-Forssman-Lehmann 综合征
基因病名称(英)
Boerjeson-Forssman-Lehmann syndrome
基因病名称
Boerjeson-Forssman-Lehmann 综合征
关键字(英)
Mental retardation
别名(英)
BORJ,Borjeson-Forssman syndrome,Mental deficiency-epilepsy- endocrine disorders
别名
BORJ,Borjeson-Forssman 综合征,精神缺陷-癫痫-内分泌失调
统计
reviewed:1; annotated:0
交叉引用
301900,C0265339,D008607
描述(英)
An X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
描述
一种 X 连锁隐性遗传疾病，其特征为中度至重度智力迟钝、癫痫、性腺功能减退、代谢减退、肥胖并伴有明显的男性乳房发育、面部皮下组织肿胀、睑裂狭窄和大但不变形的耳朵。